ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr)

dbSNP: rs2130205366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900234 SCV002128210 uncertain significance Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2021-10-07 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 382 of the GDF6 protein (p.His382Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with GDF6-related conditions. This variant is not present in population databases (ExAC no frequency).

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